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Oegema, Renske
130  results:
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1

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1206-1221 , 2024
Link: https://doi.org/10.1016/..
 
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2

Biallelic variants in CSMD1 are implicated in a neurodevelo..:

Werren, Elizabeth A. ; Peirent, Emily R. ; Jantti, Henna...
Cell Death & Disease.  15 (2024)  5 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
Genetics in Medicine.  25 (2023)  8 - p. 100871 , 2023
Link: https://doi.org/10.1016/..
 
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4

When brain size matters: novel insights into brain volume c..:

Oegema, Renske
Brain.  146 (2023)  8 - p. 3112-3113 , 2023
Link: https://doi.org/10.1093/..
 
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5

Spectrum of Phenotypic, Genetic, and Functional Characteris..:

Schwarz, Niklas ; Seiffert, Simone ; Pendziwiat, Manuela...
Neurology.  98 (2022)  20 - p. , 2022
Link: https://doi.org/10.1212/..
 
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6

Novel diagnostic DNA methylation episignatures expand and r..:

Levy, Michael A. ; McConkey, Haley ; Kerkhof, Jennifer...
Human Genetics and Genomics Advances.  3 (2022)  1 - p. 100075 , 2022
Link: https://doi.org/10.1016/..
 
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7

Deficiency of TET3 leads to a genome-wide DNA hypermethylat..:

Levy, Michael A. ; Beck, David B. ; Metcalfe, Kay...
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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8

Genetic causes underlying grey matter heterotopia:

Vriend, Ilona ; Oegema, Renske
European Journal of Paediatric Neurology.  35 (2021)  - p. 82-92 , 2021
Link: https://doi.org/10.1016/..
 
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9

Author Correction: Deficiency of TET3 leads to a genome-wid..:

Levy, Michael A. ; Beck, David B. ; Metcalfe, Kay...
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

De novo DHDDS variants cause a neurodevelopmental and neuro..:

Galosi, Serena ; Edani, Ban H ; Martinelli, Simone...
Brain.  145 (2021)  1 - p. 208-223 , 2021
Link: https://doi.org/10.1093/..
 
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11

Deep intronic TIMMDC1 variant delays diagnosis of rapidly p..:

Naber, Myrthe ; Hellebrekers, Debby ; Nievelstein, Rutger A.J....
European Journal of Medical Genetics.  64 (2021)  1 - p. 104120 , 2021
Link: https://doi.org/10.1016/..
 
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12

The spectrum of brain malformations and disruptions in twin:

Park, Kaylee B. ; Chapman, Teresa ; Aldinger, Kimberly A....
American Journal of Medical Genetics Part A.  185 (2020)  9 - p. 2690-2718 , 2020
Link: https://doi.org/10.1002/..
 
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13

International consensus recommendations on the diagnostic w..:

Oegema, Renske ; Barakat, Tahsin Stefan ; Wilke, Martina...
Nature Reviews Neurology.  16 (2020)  11 - p. 618-635 , 2020
Link: https://doi.org/10.1038/..
 
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14

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:

Hengel, Holger ; Bosso-Lefèvre, Célia ; Grady, George...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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15

Expanding the molecular spectrum and the neurological pheno..:

Jacobs, Eva Z. ; Brown, Kathleen ; Byler, Melissa C....
Clinical Genetics.  99 (2020)  2 - p. 259-268 , 2020
Link: https://doi.org/10.1111/..
 
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